Evidence map›Paper›PMID 36245460›Full record

ArticleClinical case reports2022

Multi-exon

Sonja Strang-Karlsson, Sylvia Keigwin, Anna-Kaisa Anttonen, Duncan Baker, Kerry Bean, Eveliina Jakkula

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical case reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.4field-weighted citation impact, top 32% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 2 citations in OpenAlex.

  1. Multi-exonClinical case reports · 2022
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 2 institutions in 2 countries.

Sonja Strang-KarlssonDepartment of Clinical Genetics, HUS Diagnostic Center University of Helsinki and Helsinki University Hospital Helsinki Finland.ORCID https://orcid.org/0000-0002-8594-2077
Sylvia KeigwinSheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Sheffield UK.
Anna-Kaisa AnttonenDepartment of Clinical Genetics, HUS Diagnostic Center University of Helsinki and Helsinki University Hospital Helsinki Finland.
Duncan BakerSheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Sheffield UK.
Kerry BeanSheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Sheffield UK.
Eveliina JakkulaDepartment of Clinical Genetics, HUS Diagnostic Center University of Helsinki and Helsinki University Hospital Helsinki Finland.
Sheffield Children's NHS Foundation Trust · GBUniversity of Helsinki · FI

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Classical Ehlers-Danlos syndrome (cEDS) is a rare inherited autosomal dominant connective tissue disorder with core clinical features including skin hyperextensibility, abnormal scarring, and generalized joint hypermobility. Classical EDS is predominantly caused by small pathogenic variants in the genes

Indexed as

collagen type VEhlers–Danlos syndromegermline mosaicismgonosomal mosaicism

Identifiers

PMID36245460
PMCPMC9552984
OpenAlexW4304203037

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.